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Spotlight on p63 (Guest Editors, Gerry Melino and Frank McKeon)
p63-Associated Disorders
Tuula Rinne, Hans G. Brunner and Hans van Bokhoven
volume 6 | issue 3
1 February 2007Pages: 262 - 268
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Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which Ectrodactyly, Ectodermal dysplasia and Cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can also cause non-syndromic single malformations, such as Split Hand Foot Malformation (SHFM4) and isolated cleft lip (NSCL). In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations.
Authors
Tuula Rinne
Radboud University Nijmegen Medical Centre; Nijmegen, The Netherlands
Hans G. Brunner
Radboud University Nijmegen Medical Centre; Nijmegen, The Netherlands
Hans van Bokhoven
Radboud University Nijmegen Medical Centre; Nijmegen, The Netherlands
We now provide open access to journal articles published online for one year or more. This article may be downloaded at the following link:
Download PDF If the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.